Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 30 5.3E-02 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 60 5.6E-02 3 5.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 118 5.4E-02 14 2.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 131 7.1E-02 12 2.1E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 11 3.1E-02 3 6.9E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 34 2.8E-02 1 2.4E-03
CUI: C0013595
Disease: Eczema
Eczema 		863 368 9 8.9E-03 1 2.6E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 38 2.2E-02 4 1.1E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 36 4.2E-02 1 2.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 56 4.6E-02 6 1.9E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 17 2.3E-02 1 3.3E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 22 7.5E-02 8 3.0E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 198 10 1.1E-02 1 4.5E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 50 7.5E-02 7 3.3E-02
CUI: C0027092
Disease: Myopia
Myopia 		490 167 19 3.0E-02 1 5.2E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 66 6.3E-02 3 1.6E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 41 4.2E-02 3 1.9E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 9 3.6E-02 2 1.3E-02
CUI: C0011334
Disease: Dental caries
Dental caries 		330 126 9 1.9E-02 1 6.7E-03
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		74 124 1 4.4E-03 1 6.8E-03
CUI: C0086543
Disease: Cataract
Cataract 		878 124 19 1.9E-02 1 6.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 17 5.6E-02 7 5.0E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 18 9.4E-02 1 6.8E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 20 3.5E-02 1 6.9E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 13 2.1E-02 2 1.6E-02